Canonical Allele Identifier: CA2680805423

Gene: ESR1

Linked Data

• gnomAD v4: 6-151944147-A-ATTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944151_151944156dup , CM000668.2:g.151944151_151944156dup	GRCh38
NC_000006.11:g.152265286_152265291dup , CM000668.1:g.152265286_152265291dup	GRCh37
NC_000006.10:g.152306979_152306984dup	NCBI36
NG_008493.1:g.258656_258661dup
NG_008493.2:g.292461_292466dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.761-22_761-17dup MANE Select	ENSP00000206249.3:n.761-22_761-17dup
ENST00000641399.1:n.89-22_89-17dup
ENST00000206249.7:c.761-22_761-17dup	ENSP00000206249.3:n.761-22_761-17dup
ENST00000338799.9:c.761-22_761-17dup	ENSP00000342630.5:n.761-22_761-17dup
ENST00000406599.5:c.453-116840_453-116835dup	ENSP00000384064.1:n.453-116840_453-116835dup
ENST00000415488.1:c.115+63380_115+63385dup	ENSP00000401995.1:n.115+63380_115+63385dup
ENST00000427531.6:c.242-22_242-17dup	ENSP00000394721.2:n.242-22_242-17dup
ENST00000440973.5:c.761-22_761-17dup	ENSP00000405330.1:n.761-22_761-17dup
ENST00000443427.5:c.761-22_761-17dup	ENSP00000387500.1:n.761-22_761-17dup
ENST00000456483.3:c.*110+63380_*110+63385dup	ENSP00000415934.3:n.*110+63380_*110+63385dup
NM_000125.3:c.761-22_761-17dup	NP_000116.2:n.761-22_761-17dup
NM_001122740.1:c.761-22_761-17dup	NP_001116212.1:n.761-22_761-17dup
NM_001122741.1:c.761-22_761-17dup	NP_001116213.1:n.761-22_761-17dup
NM_001122742.1:c.761-22_761-17dup	NP_001116214.1:n.761-22_761-17dup
NM_001291230.1:c.767-22_767-17dup	NP_001278159.1:n.767-22_767-17dup
NM_001291241.1:c.758-22_758-17dup	NP_001278170.1:n.758-22_758-17dup
XM_006715374.2:c.761-22_761-17dup	XP_006715437.1:n.761-22_761-17dup
XM_006715375.2:c.242-22_242-17dup	XP_006715438.1:n.242-22_242-17dup
XM_011535543.1:c.761-22_761-17dup	XP_011533845.1:n.761-22_761-17dup
XM_011535544.1:c.761-22_761-17dup	XP_011533846.1:n.761-22_761-17dup
XM_011535545.1:c.761-22_761-17dup	XP_011533847.1:n.761-22_761-17dup
XM_011535546.1:c.761-22_761-17dup	XP_011533848.1:n.761-22_761-17dup
XM_011535547.1:c.761-22_761-17dup	XP_011533849.1:n.761-22_761-17dup
XM_011535548.1:c.242-22_242-17dup	XP_011533850.1:n.242-22_242-17dup
XM_011535549.1:c.32-22_32-17dup	XP_011533851.1:n.32-22_32-17dup
NM_001328100.1:c.242-22_242-17dup	NP_001315029.1:n.242-22_242-17dup
XM_006715374.3:c.761-22_761-17dup	XP_006715437.1:n.761-22_761-17dup
XM_006715375.3:c.242-22_242-17dup	XP_006715438.1:n.242-22_242-17dup
XM_011535543.2:c.761-22_761-17dup	XP_011533845.1:n.761-22_761-17dup
XM_011535544.2:c.761-22_761-17dup	XP_011533846.1:n.761-22_761-17dup
XM_011535545.2:c.761-22_761-17dup	XP_011533847.1:n.761-22_761-17dup
XM_011535547.2:c.761-22_761-17dup	XP_011533849.1:n.761-22_761-17dup
XM_011535549.2:c.32-22_32-17dup	XP_011533851.1:n.32-22_32-17dup
XM_017010376.1:c.761-22_761-17dup	XP_016865865.1:n.761-22_761-17dup
XM_017010377.1:c.761-22_761-17dup	XP_016865866.1:n.761-22_761-17dup
XM_017010378.1:c.761-22_761-17dup	XP_016865867.1:n.761-22_761-17dup
XM_017010379.1:c.761-22_761-17dup	XP_016865868.1:n.761-22_761-17dup
XM_017010380.1:c.761-22_761-17dup	XP_016865869.1:n.761-22_761-17dup
XM_017010381.1:c.761-22_761-17dup	XP_016865870.1:n.761-22_761-17dup
XM_017010382.2:c.104-22_104-17dup	XP_016865871.1:n.104-22_104-17dup
XM_017010383.1:c.-29-22_-29-17dup	XP_016865872.1:n.-29-22_-29-17dup
XR_001743223.2:n.1131-22_1131-17dup
XR_002956266.1:n.1131-22_1131-17dup
NM_000125.4:c.761-22_761-17dup MANE Select	NP_000116.2:n.761-22_761-17dup
NM_001328100.2:c.242-22_242-17dup	NP_001315029.1:n.242-22_242-17dup
NM_001122740.2:c.761-22_761-17dup	NP_001116212.1:n.761-22_761-17dup
NM_001122741.2:c.761-22_761-17dup	NP_001116213.1:n.761-22_761-17dup
NM_001122742.2:c.761-22_761-17dup	NP_001116214.1:n.761-22_761-17dup
NM_001291230.2:c.767-22_767-17dup	NP_001278159.1:n.767-22_767-17dup
NM_001291241.2:c.758-22_758-17dup	NP_001278170.1:n.758-22_758-17dup
NM_001385568.1:c.761-22_761-17dup	NP_001372497.1:n.761-22_761-17dup
NM_001385569.1:c.761-22_761-17dup	NP_001372498.1:n.761-22_761-17dup
NM_001385570.1:c.761-22_761-17dup	NP_001372499.1:n.761-22_761-17dup
NM_001385571.1:c.761-22_761-17dup	NP_001372500.1:n.761-22_761-17dup
NM_001385572.1:c.761-22_761-17dup	NP_001372501.1:n.761-22_761-17dup